Canonical Allele Identifier: CA392336253

Gene: FBN1

Linked Data

• dbSNP Id: rs200469438
• gnomAD v4: 15-48436964-C-T
• MyVariant Identifiers: chr15:g.48729161C>T (hg19) ; chr15:g.48436964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48436964C>T , CM000677.2:g.48436964C>T	GRCh38
NC_000015.9:g.48729161C>T , CM000677.1:g.48729161C>T	GRCh37
NC_000015.8:g.46516453C>T	NCBI36
NG_008805.2:g.213825G>A , LRG_778:g.213825G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6493G>A	ENSP00000453958.2:p.Val2165Ile
ENST00000674301.2:c.6493G>A	ENSP00000501333.2:p.Val2165Ile
ENST00000682170.1:n.102G>A
ENST00000316623.10:c.6493G>A MANE Select	ENSP00000325527.5:p.Val2165Ile
ENST00000674301.1:c.1492G>A	ENSP00000501333.1:p.Val498Ile
ENST00000316623.9:c.6493G>A	ENSP00000325527.5:p.Val2165Ile
ENST00000537463.6:c.*2256G>A	ENSP00000440294.2:n.*2256G>A
ENST00000559133.5:c.1800G>A
NM_000138.4:c.6493G>A , LRG_778t1:c.6493G>A	NP_000129.3:p.Val2165Ile
NM_000138.5:c.6493G>A MANE Select	NP_000129.3:p.Val2165Ile